Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Joke B G M Verheij"'
Autor:
Maria M M Alves, Jan Osinga, Joke B G M Verheij, Marco Metzger, Bart J L Eggen, Robert M W Hofstra
Publikováno v:
PLoS ONE, Vol 5, Iss 12, p e15144 (2010)
Hirschsprung disease (HSCR) is a congenital malformation characterized by the absence of enteric neurons in the distal part of the colon. Several genes have been implicated in the development of this disease that together account for 20% of all cases
Externí odkaz:
https://doaj.org/article/612feda548a7412d9c1d571aab525ac6
Autor:
Nicole Corsten-Janssen, Julia El Mecky, Mirjam Plantinga, Eva van Dijk, Erwin Birnie, Janouk Diphoorn, Katelijne Bouman, Hanna Breet, Adelita V. Ranchor, Irene M. van Langen, Joke B. G. M. Verheij, Lauren Zwienenberg
Publikováno v:
Prenatal Diagnosis, 42(6), 762-774. Wiley-Blackwell
BACKGROUND: Adding rapid Exome Sequencing (rES) to conventional genetic tests improves the diagnostic yield of pregnancies showing ultrasound abnormalities but also carries a higher chance of unsolicited findings. We evaluated how rES, including pre-
Autor:
Nicole Corsten-Janssen, Rolf H. Sijmons, R.F. Suijkerbuijk, Helga Westers, A. J. Scheper, Joke B. G. M. Verheij, J. el Mecky, Birgit Sikkema-Raddatz, Katelijne Bouman, R. Kinds, G. T. R. Manten, I. M. van Langen, C. C. van Diemen, L. K. Duin, J. C. D. Diphoorn, H. Breet
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, 40(10), 1300-1309. Wiley-Blackwell
Prenatal Diagnosis, 40(10), 1300-1309. Wiley-Blackwell
Objective: Conventional genetic tests (quantitative fluorescent-PCR [QF-PCR] and single nucleotide polymorphism-array) only diagnose similar to 40% of fetuses showing ultrasound abnormalities. Rapid exome sequencing (rES) may improve this diagnostic
Autor:
Jan-Willem R. Pott, Galuh D.N. Astuti, Esmee H. Runhart, Christian Gilissen, Silvia Albert, Carel B. Hoyng, Stéphanie S. Cornelis, Dyon Valkenburg, Joke B. G. M. Verheij, Riccardo Sangermano, Ellen A.W. Blokland, Mubeen Khan, Frans P.M. Cremers, L. Ingeborgh van den Born, Nathalie M. Bax
Publikováno v:
Investigative Ophthalmology and Visual Science, 60, 4249-4256
Investigative Ophthalmology and Visual Science, 60, 13, pp. 4249-4256
Investigative ophthalmology & visual science, 60(13), 4249-4256. ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology and Visual Science, 60, 13, pp. 4249-4256
Investigative ophthalmology & visual science, 60(13), 4249-4256. ASSOC RESEARCH VISION OPHTHALMOLOGY INC
PURPOSE. To investigate the role of two deep-intronic ABCA4 variants, that showed a mild splice defect in vitro and can occur on the same allele as the low penetrant c.5603A>T, in Stargardt disease (STGD1).METHODS. Ophthalmic data were assessed of 18
Autor:
Gavin Arno, Bernhard H. F. Weber, Carel B. Hoyng, L. Ingeborgh van den Born, Nathalie M. Bax, Silvia Albert, Frans P.M. Cremers, Keren J. Carss, Stéphanie S. Cornelis, Felix Grassmann, Caroline C W Klaver, F. Lucy Raymond, Mubeen Khan, Ana Fakin, Andrew R. Webster, Muhammad Imran Khan, Claire Marie Dhaenens, Riccardo Sangermano, Elfride De Baere, Sarah Naessens, Heidi Stöhr, Rob W.J. Collin, Alberta A H J Thiadens, Jan Willem R. Pott, Esmee H. Runhart, Miriam Bauwens, Bernard Puech, Isabelle Meunier, Joke B. G. M. Verheij, Alejandro Garanto
Publikováno v:
Genetics in Medicine, 21(8), 1751-1760. Nature Publishing Group
Genetics in Medicine, 21(8), 1751-1760. Lippincott Williams & Wilkins
Genetics in Medicine
GENETICS IN MEDICINE
Genetics in Medicine, 21(8), 1751-1760. Lippincott Williams & Wilkins
Genetics in Medicine
GENETICS IN MEDICINE
Purpose: Using exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored autosomal recessive Stargardt disease (STGD1) as a model to identify the missing heritability.Methods: Sequencin
Autor:
Charu Deshpande, Joke B. G. M. Verheij, H Van Bokhoven, Siddharth Banka, J. S. Klein Wassink-Ruiter, Elizabeth J. Bhoj, S. C. Huffels, R. Pfundt, Ernie M.H.F. Bongers, Anne Gregor, A.P.M. de Brouwer, André Reis, Christiane Zweier, Hakon Hakonarson, Nicola K. Ragge, L. Gompertz, Dong Li, Sanmati Cuddapah, Alexander P.A. Stegmann, Sally Ann Lynch, A.T. Vulto-van Silfhout, Willie Reardon, Gyri Aasland Gradek, Daniel L. Polla, Kate Chandler, C. T. R. M. Stumpel, B. B. A. de Vries, R. Wennekes, Elaine H. Zackai, Siren Berland, Erika Leenders, K. Hill-Karfe
Publikováno v:
Genetics in Medicine, 23, 4, pp. 645-652
Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H & de, B APM 2020, ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01040-6
Genetics in Medicine, 23(4), 645-652. Nature Publishing Group
Genetics in Medicine, 23, 645-652
Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H & de, B APM 2020, ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01040-6
Genetics in Medicine, 23(4), 645-652. Nature Publishing Group
Genetics in Medicine, 23, 645-652
Contains fulltext : 234992.pdf (Publisher’s version ) (Closed access) PURPOSE: MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differenti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3096973d0dab91ba75f31747c1525309
https://repository.ubn.ru.nl/handle/2066/234992
https://repository.ubn.ru.nl/handle/2066/234992
Autor:
Caterina M. Bilardo, A. Coumans, Monique C. Haak, Esther Sikkel, Francesca Bardi, Joke B. G. M. Verheij, Mireille N. Bekker, Attie T.J.I. Go, Eva Pajkrt, Pien Bosschieter
Publikováno v:
Prenatal Diagnosis, 40(2), 197-205. Wiley
Prenatal Diagnosis
Prenatal Diagnosis, 40(2), 197-205. WILEY
Prenatal Diagnosis, 40, 197-205
Bardi, F, Bosschieter, P, Verheij, J, Go, A, Haak, M, Bekker, M, Sikkel, E, Coumans, A, Pajkrt, E & Bilardo, C 2020, ' Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening? ', Prenatal Diagnosis, vol. 40, no. 2, pp. 197-205 . https://doi.org/10.1002/pd.5590
Prenatal Diagnosis, 40(2), 197-205. Wiley-Blackwell
Prenatal Diagnosis, 40(2), 197-205. John Wiley and Sons Ltd
Prenatal diagnosis, 40(2), 197-205. John Wiley and Sons Ltd
Prenatal Diagnosis, 40, 197-205. John Wiley & Sons Ltd.
Prenatal Diagnosis, 40, 2, pp. 197-205
Prenatal Diagnosis
Prenatal Diagnosis, 40(2), 197-205. WILEY
Prenatal Diagnosis, 40, 197-205
Bardi, F, Bosschieter, P, Verheij, J, Go, A, Haak, M, Bekker, M, Sikkel, E, Coumans, A, Pajkrt, E & Bilardo, C 2020, ' Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening? ', Prenatal Diagnosis, vol. 40, no. 2, pp. 197-205 . https://doi.org/10.1002/pd.5590
Prenatal Diagnosis, 40(2), 197-205. Wiley-Blackwell
Prenatal Diagnosis, 40(2), 197-205. John Wiley and Sons Ltd
Prenatal diagnosis, 40(2), 197-205. John Wiley and Sons Ltd
Prenatal Diagnosis, 40, 197-205. John Wiley & Sons Ltd.
Prenatal Diagnosis, 40, 2, pp. 197-205
Objectives To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first‐trimester screening and to investigate which of these abnormalities wou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::874d4c7750f21b56acbde44876cd7d26
https://cris.maastrichtuniversity.nl/en/publications/f23186bd-5dbe-4acd-b5c6-0b49c7f2dfce
https://cris.maastrichtuniversity.nl/en/publications/f23186bd-5dbe-4acd-b5c6-0b49c7f2dfce
Autor:
Kathleen A. Williamson, Joseph A. Marsh, Gabriele Gillessen-Kaesbach, Simon Bodek, H Nikki Hall, Shane McKee, Patrick Edery, Liusaidh J Owen, Dragana Josifova, Françoise Meire, Jane A. Hurst, Joke B. G. M. Verheij, G G W Adams, Richard Fisher, Veronica van Heyningen, Benjamin J Livesey, David R. FitzPatrick, Charlotte Reiff, Bruce Castle, Edward S. Tobias, Birgit Lorenz, Alexander T Deng, Isabel M. Hanson, Michael P. Clarke, Marjolaine Willems, Anthony T. Moore, Jay E. Self, Michael W. Parker, Denise Williams, Elise Heon, Patrick Calvas
Publikováno v:
Williamson, K, Hall, H N, Owen, L, Livesey, B, Hanson, I, Adams, G G W, Bodek, S, Calvas, P, Castle, B, Clarke, M, Deng, A T, Edery, P, Fisher, R, Gillessen-Kaesbach, G, Héon, E, Hurst, J, Josifova, D, Lorenz, B, McKee, S, Meire, F, Moore, A T, Parker, M, Reiff, C, Self, J, Tobias, E S, Verheij, J B G M, Willems, M, Williams, D, Van Heyningen, V, Marsh, J A & FitzPatrick, D R 2019, ' Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0685-9
Genetics in Medicine
Genetics in medicine
Genetics in Medicine
Genetics in medicine
Purpose: Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by altering the affinity an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444e2433a7826bd8fdab584eb7721334
https://www.pure.ed.ac.uk/ws/files/120428082/s41436_019_0685_9.pdf
https://www.pure.ed.ac.uk/ws/files/120428082/s41436_019_0685_9.pdf
Autor:
Klaus Rohrschneider, Saskia D. van der Velde-Visser, Ellen A.W. Blokland, Dorien Lugtenberg, L. Ingeborgh van den Born, Nathalie M. Bax, Frans P.M. Cremers, Carel B. Hoyng, Marlie H M Jacobs-Camps, Joke B. G. M. Verheij, Stéphanie S. Cornelis, Caroline C W Klaver, Riccardo Sangermano, Camiel J. F. Boon, Astrid S. Plomp, Alberta A H J Thiadens, Jan-Willem R. Pott, Esmee H. Runhart, Susanne Roosing
Publikováno v:
Investigative ophthalmology & visual science, 59(8), 3220-3231. ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology and Visual Science, 59, 3220-3231
Investigative Ophthalmology & Visual Science, 59(8), 3220-3231
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology and Visual Science, 59, 8, pp. 3220-3231
Investigative ophthalmology & visual science, 59(8), 3220-3231. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology & Visual Science, 59(8), 3220-3231. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 59, 3220-3231
Investigative Ophthalmology & Visual Science, 59(8), 3220-3231
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology and Visual Science, 59, 8, pp. 3220-3231
Investigative ophthalmology & visual science, 59(8), 3220-3231. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology & Visual Science, 59(8), 3220-3231. Association for Research in Vision and Ophthalmology Inc.
PURPOSE. To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants.METHODS. The coding and noncoding regions of ABCA4 were sequ
Autor:
Sobia Shafique, Saima Riazuddin, Maleeha Azam, Arnaud P. J. Giese, Anne M.M. Oonk, Hannie Kremer, Ronald J.C. Admiraal, Rolien Free, Rashmi S. Hegde, Helger G. Yntema, Zubair M. Ahmed, Jaap Oostrik, Mike Grossheim, Gregory I. Frolenkov, Celia Zazo Seco, Erwin van Wijk, Tim M. Strom, Raheel Qamar, Margit Schraders, Joke B. G. M. Verheij
Publikováno v:
European Journal of Human Genetics, 24(4), 542-549. Nature Publishing Group
European Journal of Human Genetics, 24, 4, pp. 542-9
European Journal of Human Genetics, 24, 542-9
Eur. J. Hum. Genet. 24, 542-549 (2016)
European Journal of Human Genetics, 24, 4, pp. 542-9
European Journal of Human Genetics, 24, 542-9
Eur. J. Hum. Genet. 24, 542-549 (2016)
Contains fulltext : 167996.pdf (Publisher’s version ) (Closed access) Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense variant c.196C>T and comp